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We describe a binary expression aleatory mosaic (BEAM) system, which relies on DNA delivery by transfection or viral transduction along with nested recombinase activity to generate two genetically distinct, non-overlapping populations of cells for comparative analysis. Control cells labeled with red fluorescent protein (RFP) can be directly compared with experimental cells manipulated by genetic gain or loss of function and labeled with GFP. Importantly, BEAM incorporates recombinase-dependent signal amplification and delayed reporter expression to enable sharper delineation of control and experimental cells and to improve reliability relative to existing methods. We applied BEAM to a variety of known phenotypes to illustrate its advantages for identifying temporally or spatially aberrant phenotypes, for revealing changes in cell proliferation or death, and for controlling for procedural variability. In addition, we used BEAM to test the cortical protomap hypothesis at the individual radial unit level, revealing that area identity is cell autonomously specified in adjacent radial units.

High-grade neuroendocrine cervical cancers (NETc) are exceedingly rare, highly aggressive tumors. We analyzed 64 NETc tumor samples by whole-exome sequencing (WES). Human papillomavirus DNA was detected in 65.6% (42/64) of the tumors. Recurrent mutations were identified in PIK3CA, KMT2D/MLL2, K-RAS, ARID1A, NOTCH2, and RPL10. The top mutated genes included RB1, ARID1A, PTEN, KMT2D/MLL2, and WDFY3, a gene not yet implicated in NETc. Somatic CNV analysis identified two copy number gains (3q27.1 and 19q13.12) and five copy number losses (1p36.21/5q31.3/6p22.2/9q21.11/11p15.5). Also, gene fusions affecting the ACLY-CRHR1 and PVT1-MYC genes were identified in one of the eight samples subjected to RNA sequencing. To resolve evolutionary history, multiregion WES in NETc admixed with adenocarcinoma cells was performed (i.e., mixed-NETc). Phylogenetic analysis of mixed-NETc demonstrated that adenocarcinoma and neuroendocrine elements derive from a common precursor with mutations typical of adenocarcinomas. Over one-third (22/64) of NETc demonstrated a mutator phenotype of C > T at CpG consistent with deficiencies in MBD4, a member of the base excision repair (BER) pathway. Mutations in the PI3K/AMPK pathways were identified in 49/64 samples. We used two patient-derived-xenografts (PDX) (i.e., NET19 and NET21) to evaluate the activity of pan-HER (afatinib), PIK3CA (copanlisib), and ATR (elimusertib) inhibitors, alone and in combination. PDXs harboring alterations in the ERBB2/PI3K/AKT/mTOR/ATR pathway were sensitive to afatinib, copanlisib, and elimusertib (P < 0.001 vs. controls). However, combinations of copanlisib/afatinib and copanlisib/elimusertib were significantly more effective in controlling NETc tumor growth. These findings define the genetic landscape of NETc and suggest that a large subset of these highly lethal malignancies might benefit from existing targeted therapies.

Introduction: Coccidiosis is a serious parasitic disease in camels caused by an intestinal protozoan parasite of the genus Eimeria , which is linked to significant causes of reduced milk and meat production. In Saudi Arabia, scare literature focused on the coprological investigation of dromedary camels (Camelus dromedarius). To determine the taxonomic status of camel parasite species, we performed morphological characterization of oocysts and genetic analysis (18S rRNA and ITS-1 gene regions) of Eimeria species collected from camels in Riyadh, Saudi Arabia. Methods: A total of 150 faecal samples were obtained from camels at the old camel market. These samples were tested for the presence of Eimeria oocysts using the conventional floatation technique before being sporulated in a 2.5% potassium dichromate solution. Eimeria oocysts were morphologically and molecularly examined and identified, and the infection rate of parasitic infections was determined. Results: Our findings revealed that the overall frequency of oocysts was 30%. The identified species was Eimeria rajasthani , which had a typical ellipsoidal oocyst shape. Oocystic polar granule, micropyle, micropylar cap, and oocyst residuum are not visible. Sporocysts are oval with stieda body. Sporocyst residuum contains many granules and sporozoites with refractile bodies and nuclei. Genetic analyses of the sequence data from the partial 18S rRNA and ITS-1 gene regions revealed that the sequences obtained from E. rajasthani oocysts are related to DNA sequences reported from E. lamae from the Alpaca from China, particularly the 18S rRNA sequences. Conclusion: This study emphasized the need to use molecular phylogenetic tools to describe camel intestinal coccidian parasites with traditional morphology-based approaches to better understand their biology. For camel husbandry and disease control, more studies should be conducted to better understand the epidemiology of these protozoan parasites. [ABSTRACT FROM AUTHOR]

Hybrid grouper (Epinephelus fuscoguttatus♀ × Epinephelus lanceolatus ♂) are an essential species in marine aquaculture. However, they are susceptible to high temperatures, which can reduce disease resistance, slow growth rates, and decrease production efficiency, resulting in significant economic losses. This study aims to investigate the differences in heat tolerance between hybrid grouper and their parental species, tiger grouper (Epinephelus fuscoguttatus) and giant grouper (E. lanceolatus), and to identify heat stress-related signaling pathways and key genes. Through controlled temperature experiments, we measured the physiological and biochemical parameters of serum (ACP, AKP, TG, COR) and liver (HSP70, HSP90, SOD, CAT) in pearl gentian grouper and their parents, followed by liver transcriptome analysis of the three grouper species. The results showed that the lethal temperature of tiger grouper is 41°C, and the lethal temperature of hybrid tiger grouper and saddle grouper is 40°C. Significant changes in antioxidant and heat stress-related indicators were observed in the early stages of stress. Comparative analysis of DEGs related to heat tolerance between pearl gentian grouper and their parents revealed common DEGs including the hsp family, danaj family, slc family, pnpla2 , magot , actalb , and prodh. Among these, the gene expression trends in hybrids were similar to those of their maternal parent and varied between the same or opposite trends compared to those of their paternal parent. These findings suggest that the hybrids inherit heat regulation genes from both parents, with a higher proportion from the maternal parent, which likely explains their intermediate heat tolerance. This research provides insights into the potential relationship between heat tolerance in pearl gentian grouper and their parents and identifies key genetic information affecting heat tolerance. [ABSTRACT FROM AUTHOR]

Since 2020, a novel goose-derived reovirus, characterized by goose hemorrhagic hepatitis, has emerged in the goose breeding industry of Guangdong province, China, leading to significant economic losses in the poultry sector. To study the genetic variation of novel goose reovirus (NGRV) in Guangdong province, this experiment utilized goose embryonic fibroblast cells for virus isolation. RT-PCR was conducted to identify, amplify, clone, and sequence the complete genome of the NGRV isolated from Zhaoqing. The genomic sequences were compared with reference strains to construct a phylogenetic tree. Moreover, animal pathogenicity, excretion patterns, and pathological sections were examined. The results showed that liver and spleen samples from geese suspected of NGRV infection were used for isolation, resulting in the identification of a reovirus presumed to originate from geese, designated as GD218. In terms of genomic structure and sequence homology, GD218 closely resembles the novel duck reovirus, differing significantly from earlier isolated NDRV strains (J18, NP03, SD12, etc.) in genetic composition (nt: 80.6–97.9%, aa: 94.3–98.9%). However, it is similar to strains isolated after 2018, such as XT18, SY, QR, YL, LY20, etc. (nt: 95.3–98.9%, aa: 98.6–99.7%). Therefore, based on phylogenetic analysis, GD218 is hypothesized to be a novel type of goose-origin reovirus homologous to the novel duck reovirus. [ABSTRACT FROM AUTHOR]

The Northeast Arctic stock of haddock (Melanogrammus aeglefinus) is the most northerly stock of the species. It is one of the largest haddock stocks but not the most studied. Similar to the more extensively studied sympatric cod (Gadus morhua) and herring (Clupea harengus) stocks, it relies on Atlantic currents for egg and larvae transportation from spawning grounds to nursery areas in the Barents Sea. The exact locations of the spawning grounds have not been known and the maps that have been published differ substantially. Here, we present results from the first survey dedicated to exploring the spawning habitat of Northeast Arctic (NEA) haddock, and a particle drift and larvae growth model with physical forcing from a high‐resolution ocean model. Gadoid eggs, later identified as haddock by DNA analyses, as well as spawning individuals were sampled at the survey. Spawning haddock was found in Atlantic water in temperatures 3.6–6.2°C and depths of 240–560 m. Sampled eggs were mostly in early development stages, suggesting that they were largely spawned in the surveyed area. Using the drift model, we found that most of the modelled particles released as eggs at our surveyed area ended up in the nursery area in the Barents Sea. A crude estimate of the spawning stock biomass based on the survey suggests that the most updated spawning ground map of NEA haddock might be too restricted in its extent. Particle drift and growth with physical forcing for the years 2012–2022 indicated small interannual variation in aberrant drift, and that growth driven by ambient temperature could be important in explaining interannual variation in haddock recruitment. [ABSTRACT FROM AUTHOR]

Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of the ABCD1 gene (c.1256T > G (p.Val419Gly)) were retrospectively analyzed. Furthermore, we constructed wild-type and mutant vectors of the ABCD1 (NM0000334) gene to validate the effect of this mutation on the expression of the ABCD1 gene and protein and to explore the mechanism of X-linked adrenoleukodystrophy occurrence and development to identify therapeutic targets for clinical treatment. [ABSTRACT FROM AUTHOR]

Immune system and inflammation had a great influence on the progression of muscle atrophy. However, the causal relationship with specific immune cell traits remained uncertain. The aim of this study was to elucidate the genetic influences on these associations, providing insights into the underlying mechanisms of muscle atrophy. A bidirectional two-sample Mendelian randomization (MR) analysis was conducted to investigate the causal relationship between immune cell phenotypes and muscle atrophy. Data on immune cell phenotypes were obtained from a research cohort containing data on 731 immune cell phenotypes and data on muscle atrophy were sourced from a Finnish database. MR analysis was performed using the MR-Egger method, weighted median, inverse variance weighting, heterogeneity testing, sensitivity analysis, and multiplicity analysis, with results subjected to false discovery rate(FDR) correction. Additionally, the UK Biobank cohort was utilized as an external validation. A total of 31 immune phenotypes with causal relationships with muscle atrophy were identified, including various phenotypes of conventional dendritic cells, myeloid cells, T cells/B cells/natural killer cells, regulatory cells, and T cell maturation stages. Among them, 12 immune phenotypes were identified as exhibiting a positive causal relationship with muscle atrophy, while 19 immune phenotypes were demonstrated to have a negative causal association, highlighting the complex interactions between immune cells and muscle health. The results of the reverse MR analysis indicated that a negative correlation between muscle atrophy and CD28 on secreting Treg (OR = 0.9038, 95%CI:0.8308 ~ 0.9832, P = 0.0186). A significant positive correlation was revealed by external datasets between the CD25 on IgD + CD38- immune phenotype and the risk of muscle atrophy, which was consistent with the trend observed in the training group (OR = 1.1041, 95% CI: 1.1005–1.1076, P = 0.0263). No evidence of pleiotropy was observed, and the reliability of these findings was demonstrated by the leave-one-out analysis. The findings highlight significant correlations between certain immune cell features and muscle atrophy, providing potential targets for further investigation of immunological mechanisms and therapeutic interventions for this condition. [ABSTRACT FROM AUTHOR]

Inter-kingdom communication through small molecules is essential to the coexistence of organisms in an ecosystem. In soil communities, the plant root is a nexus of interactions for a remarkable number of fungi and is a source of small-molecule plant hormones that shape fungal compositions. Although hormone signaling pathways are established in plants, how fungi perceive and respond to molecules is unclear because many plant-associated fungi are recalcitrant to experimentation. Here, we develop an approach using the model fungus, Saccharomyces cerevisiae , to elucidate mechanisms of fungal response to plant hormones. Two plant hormones, strigolactone and methyl jasmonate, produce unique transcript profiles in yeast, affecting phosphate and sugar metabolism, respectively. Genetic analysis in combination with structural studies suggests that SLs require the high-affinity transporter Pho84 to modulate phosphate homeostasis. The ability to study small-molecule plant hormones in a tractable genetic system should have utility in understanding fungal-plant interactions. [Display omitted] • The plant hormone strigolactone hijacks phosphate metabolism in baker's yeast • Strigolactone allosterically inhibits the high-affinity phosphate transporter Pho84 • A conserved transmembrane pocket in Pho84 is required for strigolactone function • Strigolactone modulates phosphate homeostasis in plant-associated fungi Strigolactones act as both plant hormones and as environmental communication signals to plant-associated fungi. Bradley et al. show that strigolactone modulates phosphate homeostasis in baker's yeast by antagonizing the phosphate transporter Pho84. This strigolactone response is conserved in other fungi, suggesting that yeast will facilitate our understanding of natural plant-fungal communication. [ABSTRACT FROM AUTHOR]

Malaria parasites are haploid within humans, but infections often contain genetically distinct groups of clonal parasites. When the per-infection number of genetically distinct clones (i.e., the multiplicity of infection, MOI) exceeds one, and per-infection genetic data are generated in bulk, important information are obfuscated. For example, the MOI, the phases of the haploid genotypes of genetically distinct clones (i.e., how the alleles concatenate into sequences), and their frequencies. This complicates many downstream analyses, including relatedness estimation. MOIs, parasite sequences, their frequencies, and degrees of relatedness are used ubiquitously in malaria studies: for example, to monitor anti-malarial drug resistance and to track changes in transmission. In this article, MrsFreqPhase methods designed to estimate statistically malaria parasite MOI, relatedness, frequency and phase are reviewed. An overview, a historical account of the literature, and a statistical description of contemporary software is provided for each method class. The article ends with a look towards future method development, needed to make best use of new data types generated by cutting-edge malaria studies reliant on MrsFreqPhase methods. [ABSTRACT FROM AUTHOR]

Simple Summary: Porcine circovirus type 2 (PCV2) is currently the smallest known animal virus, and the diseases caused by its infection have caused huge economic losses to the pig farming industry worldwide. The virus evolves rapidly and is divided into nine genotypes, some of which pose significant challenges in preventing and controlling the disease. In this study, the polymerase chain reaction technique and bioinformatic analysis were used to investigate PCV2 infection in pig farms in Jiangsu Province, China. The results showed that the infection rate of PCV2 in pig farms in Jiangsu Province has been increasing annually, with genotypes PCV2a, PCV2b, PCV2d, and PCV2i. The genomic characteristics of the recently confirmed genotype PCV2i were elucidated. Porcine circovirus-associated diseases, caused by porcine circovirus type 2 (PCV2), are widespread and result in significant economic losses to the global swine industry. PCV2 can currently be divided into nine genotypes (PCV2a to PCV2i), with the currently dominant one being the PCV2d genotype. In this study, 2675 samples from 804 pig farms in 13 cities in Jiangsu Province, China, were collected between 2014 and 2021 and subjected to polymerase chain reaction analysis to investigate the frequency and genetic diversity of PCV2. The results showed that 41.42% (1108/2675) of samples tested positive for PCV2. The researchers further analyzed the genetic characteristics of 251 PCV2 strains and found that they belonged to the following four genotypes: PCV2a, PCV2b, PCV2d, and PCV2i. The dominant genotype was PCV2d, with a frequency of 49.80% (125/251). The detection rate of PCV2b was significantly higher than those of PCV2a and PCV2i, at 35.46% (89/251), 7.57% (19/251), and 7.17% (18/251), respectively. The percentage of different genotypes of PCV2 varied irregularly over time. We have further revealed the fingerprint of PCV2i genomic nucleotides for the first time. In conclusion, this study illustrates the high frequency and evolutionary features of PCV2 in Jiangsu Province over the past few years. [ABSTRACT FROM AUTHOR]

Simple Summary: This study aimed to estimate the phenotypic and genetic parameters of milk production rate (MPR) traits in Holstein cattle. The MPR, a metric for evaluating a cow's milk secretion per hour, was calculated using milk yield and milking interval data from 4760 cows. This study defined four milk yield and six MPR traits, and used the MIXED procedure to assess the effects of parity, season, and lactation stage on these traits. Significant effects of these non-genetic factors were found for both milk yield and MPR traits. Heritability estimates for milk yield and MPR traits were high, ranging from 0.25 to 0.39, while the stability of MPR had low heritability (0.04 to 0.05). This study concluded that MPR is a valuable trait for dairy breeding, providing new insights for herd management and genetic selection to improve dairy cattle production performance. Milk production rate (MPR) refers to the rate of milk secretion per hour (kg/h), calculated from the harvested milk yield and milking interval, and it is considered an appropriate measure to evaluate the production potential of cows. The objective of this study was to estimate the phenotypic and genetic parameters of milk production rate traits. In this study, the milking records of 4760 Holstein cows were collected, and four milk yield traits and six milk production rate traits were defined. The MIXED procedure was used to detect the impacts of non-genetic effects on milk yield and milk production rate traits, including parity, measured season and lactation stage. Variance and covariance components for milk yield and milk production rate traits were estimated using a univariate linear repeatability model. Parity, measurement season and lactation stage had significant effects (p < 0.01) on milk yield, milk production rate and its stability. Milk yield and milk production traits had high heritability, and ranged from 0.25 to 0.39. The stability of milk production rate had low heritability (0.04~0.05). Milk production rate is beneficial for the devolving novel trait in dairy breeding and provides new insights for herd management and genetic selection of production performance of dairy cattle. [ABSTRACT FROM AUTHOR]

Objective: Topical tretinoin is the mainstay of treatment for photoageing, despite the risk of skin irritation. Cosmetic combination anti‐ageing formulations may offer similar efficacy to tretinoin, while improving on tolerability. We aim to demonstrate facial appearance benefits of a novel triple‐active cosmetic formulation containing 4‐hexylresorcinol, retinyl propionate, and niacinamide and to identify transcriptomic biomarkers underpinning these benefits. Methods: A cosmetic prototype formulation containing 4‐hexylresorcinol, retinyl propionate, and niacinamide was evaluated ex vivo and in a clinical study. For ex vivo experiments, the cosmetic formulation was applied for 3 days to healthy surgical discard skin from female donors aged 31–51 years, with tissues harvested for gene expression and histologic analyses. In the clinical study, females aged 47–66 years with moderate‐to‐severe overall visual photodamage on the face applied either topical 0.02% tretinoin or the cosmetic formulation to the face for 16 weeks and to forearms for 1 week, with forearm biopsies taken for gene expression analyses. Visual grading for facial photodamage and VISIA‐CR images was taken throughout the clinical study. Safety was visually assessed during site visits, and adverse event monitoring was conducted throughout. Results: Gene expression analyses in both studies revealed modulation of pathways associated with skin rejuvenation, with several genes of interest identified due to being implicated in ageing and differentially expressed following the application of the cosmetic formulation. Reversal of a consensus skin ageing gene signature was observed with the cosmetic formulation and tretinoin in the ex vivo and clinical studies. Both the cosmetic formulation and tretinoin clinically improved the overall appearance of photoageing, crow's feet, lines, wrinkles, and pores. Adverse event reporting showed that the cosmetic formulation caused less skin irritation than tretinoin. Conclusion: In a double‐blind clinical study, the novel triple‐active cosmetic combination formulation improved the visual appearance of photoageing similarly to prescription tretinoin. The cosmetic formulation and tretinoin reversed a consensus gene signature associated with ageing. Together with adverse event reporting, these results suggest that the cosmetic formulation may be a well‐tolerated and efficacious alternative to tretinoin for improving the visual features of photoageing. [ABSTRACT FROM AUTHOR]

Objective: Dandruff is characterised by the presence of perivascular leukocytes and mild inflammation; however, the immune microenvironment of dandruff‐affected scalp skin and the potential changes to the hair follicle's (HF) physiological immune privilege (HF IP) remain unknown. Here, we characterised the HF immune microenvironment and immune privilege status in dandruff‐affected scalp skin. Methods: We assessed relevant key parameters in healthy versus dandruff‐affected human scalp biopsies using quantitative immunohistomorphometry, laser capture microdissection, and RNA sequencing. Results: The number of epidermal CD4+ and CD8+ T cells was increased in lesional dandruff scalp skin, while the number of MHC class II+/CD1a+ Langerhans cells was decreased in the infundibulum. The number of intrafollicular and perifollicular CD4+ T cells and CD8+ T cells, perifollicular CD68+ macrophages, and tryptase+ mast cells remained unchanged. Interestingly, MHC class Ia and ß2‐microglobulin protein expression were significantly increased specifically in the suprabulbar outer root sheath (ORS) compartment of dandruff‐associated HFs. RNAseq analysis of laser capture micro‐dissected suprabulbar ORS compartment revealed antigen presentation pathway as the top regulated canonical pathway, along with the upregulation of HF‐IP genes such as HLA‐C, HLA‐DP, and TAP1, which are normally down‐regulated in healthy HFs. Intrafollicular protein expression of known HF IP guardians (CD200 and α‐MSH) and 'danger signals' (MICA and CXCL10) remained unaltered at the IP sites of dandruff lesional HFs compared to non‐lesional and healthy HFs. Instead, the expression of macrophage migration inhibiting factor (MIF), another HF IP guardian, was reduced. Conclusion: Together, this work shows that dandruff is associated with epidermal T‐cell infiltration and a weakened HF IP in the suprabulbar ORS of HFs in dandruff lesional scalp. [ABSTRACT FROM AUTHOR]

Gumboro, or infectious bursal disease (IBD), represents a significant threat to poultry worldwide due to its genetic and pathogenic variations. Viruses can mutate and produce new variants, which can have an impact on the epidemiological situation. The study will determine and assess the genetics, protein sequence, and pathogenicity of IBDV present in broiler flocks in different locations within Ismalia and Dakahlia Governorates, Egypt, in 2022. A total of 150 bursa samples were collected from 15 broiler flocks exhibiting symptoms indicative of IBDV infection. The VP2 (viral protein2) gene was partially detected and then subjected to complete gene sequencing in order to summarize the key genetic mutations found and histopathological examination. The results demonstrated that 12 out of 15 farms were infected with IBDV. Genetic analysis revealed that 10 of the 12 identified strains belonged to genogroup 3, which was similar to previous Egyptian strains. The remaining two strains were of genus 1. The VP2 gene's hypervariable region displayed amino acid alterations at several positions. Classic IBDV strains (genogroup 2) showed similar amino acid profiles. Amino acid alterations were identified in the VP2 gene, indicating that classic IBDV strains may cause damage to the bursa of Fabricius, leading to immunosuppression. In Egypt, vvIBDV (very virulent infectious bursal disease virus) strains have led to recurring outbreaks and high chick mortality rates. These findings are anticipated to contribute to the latest features of IBDV in the examined regions. Therefore, it is recommended that IBDV immunization programs in Egypt, where live attenuated virus vaccinations are common, be reevaluated. It is also recommended that the evaluation of clinical signs in broiler chicken flocks over time be monitored for diagnosis. [ABSTRACT FROM AUTHOR]

Avocado (Persea americana Mill.) is a fruit tree species that grows in different regions of the world. The edible fruit and other parts of the avocado tree have immense nutritional, oil-bearing, and medicinal value. The plant is native to Guatemala but was introduced to Ethiopia by missionaries in 1939. In southern Ethiopia, where coffee is the main cash crop, it is used as a shade for plants. However, in the past 25 years, many farmers and urban dwellers have begun to use avocados as a valuable source of income. Hence, there is a need for quality avocado trees for commercial purposes. Although there is conjecture about the wide variation in avocados in Ethiopia, the diversity and population structure of this plant has not been described. This study aims to fill this gap by comparing avocado germplasm from Guatemala and Ethiopia. A sample of 298 avocados was collected from three and four populations in Guatemala and Ethiopia, respectively. Population diversity and structure were assessed using 12 simple sequence repeat (SSR) markers. The SSR marker profile detected 112 alleles, with an average of 10.21 per locus and an average PIC value of 0.84. Genetic diversity was high, with an average of 10.2 alleles per locus, a mean Shannon index value of 1.65, and observed and expected heterozygosity of 0.51 and 0.71, respectively. The expected heterozygosity varied between populations and was highest in West Guatemala (0.85) and lowest in Gamo (0.55). An analysis of molecular variance showed that 18% of the genetic variation was between the continents and only 2% among the populations. The pairwise genetic differentiation coefficient ( F ST ) indicated high differentiation between populations. The phylogenetic tree, structure, discriminant analysis of the main components, and Nei's genetic distance analysis confirmed three groups of avocados. The Wondo Genet population was more genetically diverse than the populations from the Sidama, Wolaita, and Gamo regions. Furthermore, it revealed little genetic exchange with these populations, unlike the Guatemalan avocado, indicating the presence of unique alleles among avocados in Ethiopia. The landraces from Sidama, Wolaita, and Gamo appeared to have experienced historical drift events. [ABSTRACT FROM AUTHOR]

An invasive predator eradication campaign is planned for 2024 on Amsterdam Island, one of world's top priority island for seabird conservation. In order to monitor the effects on seabird colonies post-eradication, a survey of burrow-nesting species and population monitoring of albatrosses, penguins, skuas and terns was organised pre-eradication. Several counting techniques and acoustic methods were used to infer presence/absence of burrow-nesting species and to estimate abundance of other species, as well as genetic methods for species identification. In total 14 breeding (or probably breeding) seabird species were detected on Amsterdam Island, among which eight burrowing petrels including two species never described on the island: the Juan Fernandez petrel Pterodroma externa and the sooty sherwater Ardenna grisea. Based on these new data, the introduced mammal eradication campaign on Amsterdam, if successful, will likely be extremely beneficial for seabird conservation, and may also favor the colonization of Amsterdam by new seabird species. [ABSTRACT FROM AUTHOR]

Background: Understanding the genetic control of pod shatter resistance and its association with pod length is crucial for breeding improved pod shatter resistance and reducing pre-harvest yield losses due to extensive shattering in cultivars of Brassica species. In this study, we evaluated a doubled haploid (DH) mapping population derived from an F1 cross between two Brassica carinata parental lines Y-BcDH64 and W-BcDH76 (YWDH), originating from Ethiopia and determined genetic bases of variation in pod length and pod shatter resistance, measured as rupture energy. The YWDH population, its parental lines and 11 controls were grown across three years for genetic analysis. Results: By using three quantitative trait loci (QTL) analytic approaches, we identified nine genomic regions on B02, B03, B04, B06, B07 and C01 chromosomes for rupture energy that were repeatedly detected across three growing environments. One of the QTL on chromosome B07, flanked with DArTseq markers 100,046,735 and 100,022,658, accounted for up to 27.6% of genetic variance in rupture energy. We observed no relationship between pod length and rupture energy, suggesting that pod length does not contribute to variation in pod shatter resistance. Comparative mapping identified six candidate genes; SHP1 on B6, FUL and MAN on chromosomes B07, IND and NST2 on B08, and MAN7 on C07 that mapped within 0.2 Mb from the QTL for rupture energy. Conclusion: The results suggest that favourable alleles of stable QTL on B06, B07, B08 and C01 for pod shatter resistance can be incorporated into the shatter-prone B. carinata and its related species to improve final seed yield at harvest. [ABSTRACT FROM AUTHOR]

Background: Low levels of the essential amino acid lysine in maize endosperm is considered to be a major problem regarding the nutritional quality of food and feed. Increasing the lysine content of maize is important to improve the quality of food and feed nutrition. Although the genetic basis of quality protein maize (QPM) has been studied, the further exploration of the quantitative trait loci (QTL) underlying lysine content variation still needs more attention. Results: Eight maize inbred lines with increased lysine content were used to construct four double haploid (DH) populations for identification of QTLs related to lysine content. The lysine content in the four DH populations exhibited continuous and normal distribution. A total of 12 QTLs were identified in a range of 4.42–12.66% in term of individual phenotypic variation explained (PVE) which suggested the quantitative control of lysine content in maize. Five main genes involved in maize lysine biosynthesis pathways in the QTL regions were identified in this study. Conclusions: The information presented will allow the exploration of candidate genes regulating lysine biosynthesis pathways and be useful for marker-assisted selection and gene pyramiding in high-lysine maize breeding programs. [ABSTRACT FROM AUTHOR]

【Objective】A major gene and polygenes genetic analysis on the chlorophyll content in the pulp of cheih-qua was conducted to study the relationship and genetic mechanism between pulp color and chlorophyll content, with an aim to lay a foundation for the breeding of high-quality cheih-qua varieties.【Method】In the study, cheih-qua inbred lines J16 (white pulp) and FJ5 (green pulp) were used to form four generation populations, P1, P2, F1 and F2. The pulp color of the chieh-qua was observed by naked eye and the chlorophyll content was measured. The genetic model analysis software package was used to analyze the chlorophyll content of the pulp, and the maximum likelihood function value and AIC value were obtained. Then, the three models with the smallest AIC values were selected as alternate models and the suitability test was carried out. Finally, the first- and second-order genetic parameters of the optimal genetic model were calculated, and the genetic effect values of major genes and polygenes were analyzed.【Result】The results showed that chlorophyll content was the key factor in the formation of green pulp of the chieh-qua. The color and chlorophyll content of the F1 generation were between the parents and slightly inclined to the white pulp parents (P1), and the color and chlorophyll content of the F2 generation showed quantitative characteristics. The optimal genetic model for chlorophyll content in the pulp was MX2-ADI-ADI, that is, 2 pairs of additive - dominant - epistatic major gene + additive - dominant - epistatic polygene models. In the first-order genetic parameters, the sum of absolute additive effects (da +db) of the two major genes was greater than the sum of absolute dominant effects (ha +hb), and da > db, indicated that the negative additive effect of the first major gene was dominant. In epistatic genetic effects, gene additive-additive interactions were the main positive effects. The second-order genetic parameters indicated that the genetic variance of the major gene was 32.1590, the genetic variance of the polygenes was 1.1540, and the heritability rates of the major gene and the polygenes were 93.69% and 3.36%, respectively. 【Conclusion】The heritability of major genes for the pulp color of chieh-qua is much higher than that of polygenes, and the major genes are dominant. Therefore, we should pay attention to the use of major genes in the process of high-quality breeding of chieh-qua, and we can select in early generations and improve chieh-qua by combined breeding. [ABSTRACT FROM AUTHOR]

Aims The Colorado potato beetle, Leptinotarsa decemlineata (Say) (Coleoptera: Chrysomelidae) is the most widespread insect pest that causes major economic losses, especially on potatoes. Due to heavy insecticide use, this species now resists most pesticides, posing a significant control challenge. Frequent pesticide application also harms non-target organisms, the environment, and human health. Hence, utilizing biocontrol agents like entomopathogenic fungi (EPF) offers a viable alternative for pest management. The aim of this study was to identify and characterize new EPF strains isolated from soil samples and evaluate their efficacy against adult L. decemlineata under laboratory conditions. Methods and results Soil samples were collected in potato fields or uncultivated areas adjacent to the field in the Czech Republic and the EPF strains were isolated using a modified Tenebrio bait method. A total of 20 fungal strains were isolated and identified using morphological and molecular markers based on the 28S rRNA, ITS, and elongation factor 1-alpha gene sequences as Beauveria bassiana (Bals.-Criv.) Vuill. Beauveria brongniartii (Sacc.) Petch, and Cordyceps fumosorosea (Wize) Kepler, B. Shrestha & Spatafora (Hypocreales: Cordycipitaceae), Purpureocillium lilacinum (Thom.) Luangsa-ard, Houbraken, Hywel-Jones & Samson (Hypocreales: Ophiocordycipitaceae), Metarhizium brunneum (Petch), and Metarhizium robertsii Bisch. Rehner & Humber (Hypocreales: Clavicipitaceae). The bioassays revealed high variability among virulence of these strains against L. decemlineata with the shortest median time to death (LT50 = 5 days) in M. robertsii strain MAN3b. Conclusions Results shown that some EPF strains, particularly those of genera Metarhizium , can be promising biocontrol agents against the Colorado potato beetle. [ABSTRACT FROM AUTHOR]

Although age-dependent alterations in urinary magnesium (Mg2+) excretion have been described, the underlying mechanism remains elusive. As heritability significantly contributes to variations in urinary Mg2+ excretion, we measured urinary Mg2+ excretion at different ages in a cohort of genetically variable Diversity Outbred (DO) mice. Compared with animals aged 6 mo, an increase in Mg2+ excretion was observed at 12 and 18 mo. Quantitative trait locus (QTL) analysis revealed an association of a locus on chromosome 10 with Mg2+ excretion at 6 mo of age, with Oit3 (encoding oncoprotein-induced transcript 3; OIT3) as our primary candidate gene. To study the possible role of OIT3 in renal Mg2+ handling, we generated and characterized Oit3 knockout (Oit3−/−) mice. Although a slightly lower serum Mg2+ concentration was present in male Oit3−/− mice, this effect was not observed in female Oit3−/− mice. In addition, urinary Mg2+ excretion and the expression of renal magnesiotropic genes were unaltered in Oit3−/− mice. For animals aged 12 and 18 mo, QTL analysis revealed an association with a locus on chromosome 19, which contains the gene encoding TRPM6, a known Mg2+ channel involved in renal Mg2+ reabsorption. Comparison with RNA sequencing (RNA-Seq) data revealed that Trpm6 mRNA expression is inversely correlated with the QTL effect, implying that TRPM6 may be involved in age-dependent changes in urinary Mg2+ excretion in mice. In conclusion, we show here that variants in Oit3 and Trpm6 are associated with urinary Mg2+ excretion at distinct periods of life, although OIT3 is unlikely to affect renal Mg2+ handling. NEW & NOTEWORTHY: Aging increased urinary magnesium (Mg2+) excretion in mice. We show here that variation in Oit3, a candidate gene for the locus associated with Mg2+ excretion in young mice, is unlikely to be involved as knockout of Oit3 did not affect Mg2+ excretion. Differences in the expression of the renal Mg2+ channel TRPM6 may contribute to the variation in urinary Mg2+ excretion in older mice. [ABSTRACT FROM AUTHOR]

Tuta absoluta (Meyrick) has become a serious menace to the sustainable production of tomatoes in Kenya. Investigating the genetic diversity, geographical distribution, and community structure of T. absoluta from various locations utilizing the Cytochrome c oxidase I (COI) of the mtDNA gene information available on NCBI databases. Based on the COI of mtDNA, the haplotype analysis revealed six haplotypes, which displayed low nucleotide (π = 0.00021) diversity. In contrast, haplotype diversity (Hd) was 0.05, and the number of segregating sites (S) was 13. The result showed that the tomato leaf miner population from Central Kenya had high variability in haplotype supported by the haplotype network. Tajima (D) and Fu's Fs were found to be negative (P > 0.05), whereas the overall FST value was 0.00077 (P > 0.001). In conclusion, genetic analysis showed there was no high variation amongst population from different locations. [ABSTRACT FROM AUTHOR]

Abstract Immune system and inflammation had a great influence on the progression of muscle atrophy. However, the causal relationship with specific immune cell traits remained uncertain. The aim of this study was to elucidate the genetic influences on these associations, providing insights into the underlying mechanisms of muscle atrophy. A bidirectional two-sample Mendelian randomization (MR) analysis was conducted to investigate the causal relationship between immune cell phenotypes and muscle atrophy. Data on immune cell phenotypes were obtained from a research cohort containing data on 731 immune cell phenotypes and data on muscle atrophy were sourced from a Finnish database. MR analysis was performed using the MR-Egger method, weighted median, inverse variance weighting, heterogeneity testing, sensitivity analysis, and multiplicity analysis, with results subjected to false discovery rate(FDR) correction. Additionally, the UK Biobank cohort was utilized as an external validation. A total of 31 immune phenotypes with causal relationships with muscle atrophy were identified, including various phenotypes of conventional dendritic cells, myeloid cells, T cells/B cells/natural killer cells, regulatory cells, and T cell maturation stages. Among them, 12 immune phenotypes were identified as exhibiting a positive causal relationship with muscle atrophy, while 19 immune phenotypes were demonstrated to have a negative causal association, highlighting the complex interactions between immune cells and muscle health. The results of the reverse MR analysis indicated that a negative correlation between muscle atrophy and CD28 on secreting Treg (OR = 0.9038, 95%CI:0.8308 ~ 0.9832, P = 0.0186). A significant positive correlation was revealed by external datasets between the CD25 on IgD + CD38- immune phenotype and the risk of muscle atrophy, which was consistent with the trend observed in the training group (OR = 1.1041, 95% CI: 1.1005–1.1076, P = 0.0263). No evidence of pleiotropy was observed, and the reliability of these findings was demonstrated by the leave-one-out analysis. The findings highlight significant correlations between certain immune cell features and muscle atrophy, providing potential targets for further investigation of immunological mechanisms and therapeutic interventions for this condition.

Abstract Background Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct sequencing, to identify CYP21A2 mutations efficiently and comprehensively. Targeted CYP21A2 mutation analysis was performed in 113 patients and 226 parents. Large rearrangements of CYP21A2 were characterized by CNVplex; twenty prevalent mutations, including nine common micro-conversions and eleven high-frequency mutations reported in the literature, were detected by SNaPshot; and rare mutations were investigated by direct sequencing. Results Among the 113 21-OHD patients, 95.6% of the affected alleles were detected accurately by SNaPshot and CNVplex. Prevalent mutations were detected in 69.5% of the alleles; 62.4% of alleles contained pseudogene-derived micro-conversions, 1.8% contained nonpseudogene-derived mutations, and 5.3% contained complex variations resulting from multiple recombinations between CYP21A2 and CYP21A1P. Large rearrangements were identified in 27.0% of the alleles, including five types (CH-1, CH-3, CH-4, CH-5 and CH-8) of chimeric CYP21A1P/CYP21A2 genes. Two novel CYP21A2 haplotypes and four de novo CYP21A2 mutations were characterized. A rare haplotype with a c.955 C > T mutation in the duplicated CYP21A2 gene was found in 0.9% of the probands and 33.3% of the parents. In addition, four parents were also diagnosed with 21-OHD. Conclusion CNVplex and SNaPshot appear to be highly efficient and reliable techniques for use in a molecular diagnosis laboratory, and combined with direct sequencing based on locus-specific PCR, they might constitute a definitive way to detect almost all common and rare 21-OHD-related alleles.

Ruidong Ma,&ast; Wei Li,&ast; Qiufeng Peng,&ast; Ao Ren, Ling Zhao, Jiawei Li, Shiqiao Luo Department of Hepatobiliary Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Shiqiao Luo, Department of Hepatobiliary Surgery, The First Affiliated Hospital of Chongqing Medical University, Youyi Road 1st, Yuzhong District, Chongqing, 400016, People’s Republic of China, Tel +86-15002355050, Email 202065@hospital.cqmu.edu.cnPurpose: Prior research has suggested a correlation between gallstones and depressive symptoms, yet the specifics of this relationship remain unclear. This study aims to explore the association between gallstones and depressive symptoms among adults.Patients and Methods: Initially, we conducted a cross-sectional study using data from the National Health and Nutrition Examination Survey (NHANES) 2017 – March 2020. After propensity score matching (PSM) for participants with gallstones and those without gallstones, multivariate logistic regression analysis was used to explore the potential association between gallstones and depressive symptoms. This was followed by Mendelian randomization (MR) analysis to further elucidate the causal relationship between them. Using the genome-wide association study database, we extracted instrumental variables and performed bidirectional univariate and multivariate MR analyses.Results: In the cross-sectional study of NHANES 2017 – March 2020, 835 pairs of participants with comparable characteristics, both with and without gallstones, were identified after PSM. The multivariate adjusted logistic regression analyses revealed a significant association between gallstones and depressive symptoms [fully adjusted model: OR=1.821 (95% CI, 1.181– 2.808), P=0.007]. Subsequent MR analyses further clarified the causal relationship, indicating that genetically determined gallstones significantly increase the risk of developing depressive symptoms [forward univariate MR analysis: OR=1.04 (95% CI, 1.01– 1.06), P=0.002; multivariate MR analysis: OR=1.03 (95% CI, 1.01– 1.05), P=0.009], with no evidence of reverse causation [inverse univariate MR analysis: OR=1.28 (95% CI, 0.90– 1.83), P=0.17].Conclusion: Gallstones are a risk factor for depressive symptoms among adults. Hence, we recommend timely depression screening for patients diagnosed with gallstones, facilitating early detection and effective treatment of depressive symptoms, thus alleviating its impact on both individuals and society.Keywords: depressive symptoms, gallstones, risk factor, causality, genetic analysis, cross-sectional study

Abstract Malaria parasites are haploid within humans, but infections often contain genetically distinct groups of clonal parasites. When the per-infection number of genetically distinct clones (i.e., the multiplicity of infection, MOI) exceeds one, and per-infection genetic data are generated in bulk, important information are obfuscated. For example, the MOI, the phases of the haploid genotypes of genetically distinct clones (i.e., how the alleles concatenate into sequences), and their frequencies. This complicates many downstream analyses, including relatedness estimation. MOIs, parasite sequences, their frequencies, and degrees of relatedness are used ubiquitously in malaria studies: for example, to monitor anti-malarial drug resistance and to track changes in transmission. In this article, MrsFreqPhase methods designed to estimate statistically malaria parasite MOI, relatedness, frequency and phase are reviewed. An overview, a historical account of the literature, and a statistical description of contemporary software is provided for each method class. The article ends with a look towards future method development, needed to make best use of new data types generated by cutting-edge malaria studies reliant on MrsFreqPhase methods.

In 1908, George Coats published a paper about a rare form of outer retinopathy with massive exudation. Until today, the causes of the Coats’ disease (CD) has not been revealed and there is no generally accepted model of its pathogenesis. It was hypothesized that the condition could be caused by an infectious process or an inflammatory reaction, but there is no consensus about that. Genetic determinants of CD have not been identified, either. A histological examination of CD revealed “cholesterol fissures”, subretinal exudate, massive gliosis, retinal disorganization, vasodilation and hyalinization, diffuse thickening of retinal capillaries and areas of complete absence of pericytes and vascular endothelium, as well as inflammatory infiltrates. The main component of subretinal exudate is intense cell reaction of the macrophages. A study of the cytokine profile showed an increased concentration of VEGF in the subretinal fluid, the level of IL-6 was significantly higher in adult patients and correlated with the degree of exudative retinal detachment. In the eye fundus of CD patients, vascular telangiectasias followed by exudate deposition in these areas have been revealed. Complications of CD include vasoproliferative tumors, neovascular glaucoma, intraretinal and intraocular hemorrhages, vitreous fibrosis, traction retinal detachment, anterior chamber cholesterolosis. CD treatment includes laser coagulation, cryotherapy, intravitreal administration of glucocorticosteroids and angiogenesis inhibitors. In severe forms and advanced stages of CD, vitreoretinal surgery is resorted to. Enucleation may be necessary in some cases.

Larvae of the European species Eurylophella karelica Tiensuu, 1935, one of the Western Palaearctic representatives of the genus Eurylophella Tiensuu, 1935, were frst discovered in the south of the Komi Republic on the territory of the Koygorodskiy National Park and in the northern part of Kirov Region (north-east of the European part of Russia). Larvae were found in samples of zoobenthos and on fooded woody vegetation in the coastal parts of rivers. Tus, the range of the species is much wider than previously known. For the frst time, a genetic analysis was performed for this species, and a phylogenetic tree for closely related taxa was constructed.

Gumboro, or infectious bursal disease (IBD), represents a significant threat to poultry worldwide due to its genetic and pathogenic variations. Viruses can mutate and produce new variants, which can have an impact on the epidemiological situation. The study will determine and assess the genetics, protein sequence, and pathogenicity of IBDV present in broiler flocks in different locations within Ismalia and Dakahlia Governorates, Egypt, in 2022. A total of 150 bursa samples were collected from 15 broiler flocks exhibiting symptoms indicative of IBDV infection. The VP2 (viral protein2) gene was partially detected and then subjected to complete gene sequencing in order to summarize the key genetic mutations found and histopathological examination. The results demonstrated that 12 out of 15 farms were infected with IBDV. Genetic analysis revealed that 10 of the 12 identified strains belonged to genogroup 3, which was similar to previous Egyptian strains. The remaining two strains were of genus 1. The VP2 gene's hypervariable region displayed amino acid alterations at several positions. Classic IBDV strains (genogroup 2) showed similar amino acid profiles. Amino acid alterations were identified in the VP2 gene, indicating that classic IBDV strains may cause damage to the bursa of Fabricius, leading to immunosuppression. In Egypt, vvIBDV (very virulent infectious bursal disease virus) strains have led to recurring outbreaks and high chick mortality rates. These findings are anticipated to contribute to the latest features of IBDV in the examined regions. Therefore, it is recommended that IBDV immunization programs in Egypt, where live attenuated virus vaccinations are common, be reevaluated. It is also recommended that the evaluation of clinical signs in broiler chicken flocks over time be monitored for diagnosis.

【Objective】A major gene and polygenes genetic analysis on the chlorophyll content in the pulp of cheih-qua was conducted to study the relationship and genetic mechanism between pulp color and chlorophyll content, with an aim to lay a foundation for the breeding of high-quality cheih-qua varieties.【Method】In the study, cheih-qua inbred lines J16 (white pulp) and FJ5 (green pulp) were used to form four generation populations, P1, P2, F1 and F2. The pulp color of the chieh-qua was observed by naked eye and the chlorophyll content was measured. The genetic model analysis software package was used to analyze the chlorophyll content of the pulp, and the maximum likelihood function value and AIC value were obtained. Then, the three models with the smallest AIC values were selected as alternate models and the suitability test was carried out. Finally, the first- and second-order genetic parameters of the optimal genetic model were calculated, and the genetic effect values of major genes and polygenes were analyzed.【Result】The results showed that chlorophyll content was the key factor in the formation of green pulp of the chieh-qua. The color and chlorophyll content of the F1 generation were between the parents and slightly inclined to the white pulp parents (P1), and the color and chlorophyll content of the F2 generation showed quantitative characteristics. The optimal genetic model for chlorophyll content in the pulp was MX2-ADI-ADI, that is, 2 pairs of additive - dominant - epistatic major gene + additive - dominant - epistatic polygene models. In the first-order genetic parameters, the sum of absolute additive effects (da+db) of the two major genes was greater than the sum of absolute dominant effects (ha+hb), and da > db, indicated that the negative additive effect of the first major gene was dominant. In epistatic genetic effects, gene additive-additive interactions were the main positive effects. The second-order genetic parameters indicated that the genetic variance of the major gene was 32.1590, the genetic variance of the polygenes was 1.1540, and the heritability rates of the major gene and the polygenes were 93.69% and 3.36%, respectively.【Conclusion】The heritability of major genes for the pulp color of chieh-qua is much higher than that of polygenes, and the major genes are dominant. Therefore, we should pay attention to the use of major genes in the process of high-quality breeding of chieh-qua, and we can select in early generations and improve chieh-qua by combined breeding.

Abstract Background Understanding the genetic control of pod shatter resistance and its association with pod length is crucial for breeding improved pod shatter resistance and reducing pre-harvest yield losses due to extensive shattering in cultivars of Brassica species. In this study, we evaluated a doubled haploid (DH) mapping population derived from an F1 cross between two Brassica carinata parental lines Y-BcDH64 and W-BcDH76 (YWDH), originating from Ethiopia and determined genetic bases of variation in pod length and pod shatter resistance, measured as rupture energy. The YWDH population, its parental lines and 11 controls were grown across three years for genetic analysis. Results By using three quantitative trait loci (QTL) analytic approaches, we identified nine genomic regions on B02, B03, B04, B06, B07 and C01 chromosomes for rupture energy that were repeatedly detected across three growing environments. One of the QTL on chromosome B07, flanked with DArTseq markers 100,046,735 and 100,022,658, accounted for up to 27.6% of genetic variance in rupture energy. We observed no relationship between pod length and rupture energy, suggesting that pod length does not contribute to variation in pod shatter resistance. Comparative mapping identified six candidate genes; SHP1 on B6, FUL and MAN on chromosomes B07, IND and NST2 on B08, and MAN7 on C07 that mapped within 0.2 Mb from the QTL for rupture energy. Conclusion The results suggest that favourable alleles of stable QTL on B06, B07, B08 and C01 for pod shatter resistance can be incorporated into the shatter-prone B. carinata and its related species to improve final seed yield at harvest.

Abstract Background Low levels of the essential amino acid lysine in maize endosperm is considered to be a major problem regarding the nutritional quality of food and feed. Increasing the lysine content of maize is important to improve the quality of food and feed nutrition. Although the genetic basis of quality protein maize (QPM) has been studied, the further exploration of the quantitative trait loci (QTL) underlying lysine content variation still needs more attention. Results Eight maize inbred lines with increased lysine content were used to construct four double haploid (DH) populations for identification of QTLs related to lysine content. The lysine content in the four DH populations exhibited continuous and normal distribution. A total of 12 QTLs were identified in a range of 4.42–12.66% in term of individual phenotypic variation explained (PVE) which suggested the quantitative control of lysine content in maize. Five main genes involved in maize lysine biosynthesis pathways in the QTL regions were identified in this study. Conclusions The information presented will allow the exploration of candidate genes regulating lysine biosynthesis pathways and be useful for marker-assisted selection and gene pyramiding in high-lysine maize breeding programs.

Neurogenetic diseases affect individuals across the lifespan, but accurate diagnosis remains elusive for many patients. Adults with neurogenetic disorders often undergo a long diagnostic odyssey, with multiple specialist evaluations and countless investigations without a satisfactory diagnostic outcome. Reasons for these diagnostic challenges include: (1) clinical features of neurogenetic syndromes are diverse and under-recognized, particularly those of adult-onset, (2) neurogenetic syndromes may manifest with symptoms that span multiple neurological and medical subspecialties, and (3) a positive family history may not be present or readily apparent. Furthermore, there is a large gap in the understanding of how to apply genetic diagnostic tools in adult patients, as most of the published literature focuses on the pediatric population. Despite these challenges, accurate genetic diagnosis is imperative to provide affected individuals and their families guidance on prognosis, recurrence risk, and, for an increasing number of disorders, offer targeted treatment. Here, we provide a framework for recognizing adult neurogenetic syndromes, describe the current diagnostic approach, and highlight studies using next-generation sequencing in different neurological disease cohorts. We also discuss diagnostic pitfalls, barriers to achieving a definitive diagnosis, and emerging technology that may increase the diagnostic yield of testing.

Abstract Background Alagille syndrome (ALGS) is a multisystem genetic disorder frequently characterized by hepatic manifestations. This study analyzed the clinical, pathological, and molecular genetic features of ALGS to improve the efficiency of clinical diagnosis. Methods We retrospectively analyzed the clinical manifestations, pathological examination findings, and genetic testing results of 17 children diagnosed with ALGS based on the revised criteria and hospitalized at our center from January 2012 to January 2022. Results The clinical manifestations are as follows: Cholestasis (16/17, 94%), characteristic facies (15/17, 88%), heart disease (12/16, 75%), butterfly vertebrae (12/17, 71%) and posterior embryotoxon (7/12, 58%). Among the 15 patients who underwent liver pathology examination, 13 (87%) were found to have varying degrees of bile duct paucity. Genetic testing was performed on 15 children, and pathogenic variants of the jagged canonical Notch ligand 1 (JAG1) gene were identified in 13 individuals, including 4 novel variants. No pathogenic variant in the notch homolog 2 (NOTCH2) gene were identified, and 2 children exhibited none of the aforementioned gene pathogenic variants. The median follow-up duration was 7 years. Of the remaining 15 patients (excluding 2 lost to follow-up), 11 remained stable, 4 deteriorated, and no patient died during the follow-up period. Conclusions Among children diagnosed with ALGS, cholestasis stands as the most common feature. To minimize the risk of misdiagnosis, genetic testing should be performed on children exhibiting cholestasis, followed by the application of the revised diagnostic criteria for ALGS. While pharmacological therapy has shown effectiveness for ALGS patients, liver transplantation may be considered in instances of severe pruritus.

Abstract Background Understanding the mechanism of male sterility is crucial for producing hybrid seeds and developing sterile germplasm resources. However, only a few cytoplasmic male sterility (CMS) lines of cotton have been produced due to several challenges, like inadequate variation of agronomic traits, incomplete sterility, weak resilience of restorer lines, and difficulty in combining strong dominance. Therefore, the morphological and cytological identification of CMS in cotton will facilitate hybrid breeding. Results Two F2 segregating populations of cotton were constructed from cytoplasmic male sterile lines (HaA and 01A, maternal) and restorer lines (HaR and 26R, paternal). Genetic analysis of these populations revealed a segregation ratio of 3:1 for fertile to sterile plants. Phenotypic analysis indicated no significant differences in traits of flower bud development between sterile and fertile plants. However, sterile plants exhibited smaller floral organs, shortened filament lengths, and anther atrophy on the flowering day in comparison with the fertile plants. When performed scanning electron microscopy (SEM), the two F2 populations revealed morphological variations in the anther epidermis. Cellular analysis showed no significant differences in pollen development before pollen maturation. Interestingly, between the pollen maturation and flowering stages, the tapetum layer of sterile plants degenerated prematurely, resulting in abnormal pollen grains and gradual pollen degradation. Conclusion The results of this study suggest that fertility-restoring genes are controlled by a single dominant gene. Sterile plants exhibit distinctive floral morphology, which is characterized by stamen atrophy and abnormal anthers. Pollen abortion occurs between pollen maturity and flowering, indicating that premature tapetum degradation may be the primary cause of pollen abortion. Overall, our study provides a theoretical basis for utilizing CMS in hybrid breeding and in-depth investigation of the dominant configuration of cotton hybrid combinations, mechanisms of sterility, and the role of sterile and restorer genes.

Abstract Background Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1. Methods We analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis. Results The OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations. Conclusions This study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies.

The objective of this research was to identify the morphology and molecular profile of crab caught from the coast of Tambala Village, Tombariri District, Minahasa Regency, North Sulawesi. Crabs were collected from the intertidal zone at night during the lowest tide. Crabs were morphological identified by description of shape, color and size of the carapace. Molecular identification was done through DNA barcoding including DNA extraction, amplification of the cytochrome c oxidase subunit I (COI) gene and electrophoresis. Morphological and genetic analysis identified the crab species as Metopograpsus oceanicus.

Abstract Background Multiple supernumerary teeth, combined with numerous impacted teeth, can lead to various malocclusions, posing significant treatment challenges. While certain genes associated with syndromic cases of multiple supernumerary and impacted teeth have been identified, the etiologies of non-syndromic cases still largely remain elusive. Case presentation Here, we report a treatment of a 12-year-old boy who presented with 10 supernumerary teeth and 6 impacted teeth, accompanied by a genetic analysis to explore the underlying etiology. During the treatment, fifteen teeth were extracted, and various skilled techniques, including the closed-eruption technique and the application of by-pass arches, were utilized. Post-treatment, traction was successful for all the impacted teeth, without any tooth mobility or reduction in gingival height. Space closure, well-aligned teeth, and excellent functional occlusion were achieved. Furthermore, comprehensive genetic analysis was conducted through whole-exome sequencing on the patient and his parents, which revealed a potential link between the patient’s numerous supernumerary teeth and abnormal mineralization. Notably, the p.Ser496Pro variant in the TCF7L2 gene was identified as a potential candidate variant in this patient. Conclusions Overall, our findings not only report the treatment of a rare case involving multiple supernumerary and impacted teeth but also offer valuable insights into the molecular basis of supernumerary teeth.

ABSTRACT: Reduction of methane emission may become necessary for sustainable milk production. Several studies indicate a relationship between rumination time and the level of methane emission. The objectives of the current study were to estimate environmental factors affecting daily rumination time in high-yielding dairy cattle, genetic parameters for rumination time across parities, and environmental and genetic correlations between rumination time and economic traits, and to predict the consequence of inclusion of this trait in the Israeli breeding index. The data included more than 30 million daily records from 77,697 Israeli Holstein cows for rumination time and milk production. A lactation measure of daily rumination time per cow was computed as the mean of the residuals from a linear model analysis with rumination time as the dependent variable. The independent variables were parity and the square root, linear, quadradic and inverse of DIM by parity. Because of the shape of the lactation curve for rumination time, separate linear model analyses were performed for records up to 40 DIM and records with >40 DIM. The phenotypic correlation between first- and second-parity lactations for rumination time was almost 0.8, and close to 0.7 for milk. The heritability of lactation rumination time was close to 0.44 for parities 1 to 3. Heritability for milk production decreased from 0.5 in first parity to 0.3 in third parity. For both traits, genetic correlations among parities were all >0.9. Thus, for routine genetic analysis of rumination time, records in the different parities can be considered the same trait. The genetic correlation between rumination time and milk on first parity was 0.25 and increased slightly with increase in parity. Genetic correlations between rumination time, based on the first 40 DIM, were economically unfavorable with retained placenta but economically favorable with metritis, ketosis, and displaced abomasum. Genetic correlations between rumination time and the 9 traits included in the Israeli breeding index (milk, fat, and protein production; SCS; female fertility; herd-life; milk production persistency; calving ease; and calf mortality) were all economically favorable, except for the correlation of 0.17 with SCS. With the current index, daily rumination time with a current mean of 536 min and SD of 90 min is expected to increase by 11 min/d after 10 yr of selection. Inclusion of this trait with a positive index weight equivalent to 10% of the index should increase rumination time by 19 min. All changes in expected gains due to inclusion of rumination time in the index were economically positive, except for fat and SCS. Inclusion of rumination time in the index should result in 1 kg less gain in fat, a miniscule gain of 0.03 for SCS; and gains of 1.5 kg protein, 0.3% female fertility, and 5 d herd-life. Even though the case for a genetic correlation between rumination time and methane emission is still weak, inclusion of this trait in the commercial index may be justified, considering that equipment is now commercially available for routine recording at reasonable cost.

ABSTRACT: Hematological parameters refer to the assessment of changes in the number and distribution of blood cells, including leukocytes (LES), erythrocytes (ERS), and platelets (PLS), which are essential for the early diagnosis of hematological system disorders and other systemic diseases in livestock. In this context, the primary objectives of this study were to investigate the genomic background of 19 hematological parameters in Holstein cattle, focusing on LES, ERS, and PLS blood components. Genetic and phenotypic (co)variances of hematological parameters were calculated based on the average information restricted maximum likelihood method and 1,610 genotyped individuals and 5,499 hematological parameter records from 4,543 cows. Furthermore, we assessed the genetic relationship between these hematological parameters and other economically important traits in dairy cattle breeding programs. We also carried out genome-wide association studies and candidate gene analyses. Blood samples from 21 primiparous cows were used to identify candidate genes further through RNA sequencing (RNA-seq) analyses. Hematological parameters generally exhibited low-to-moderate heritabilities ranging from 0.01 to 0.29, with genetic correlations between them ranging from −0.88 ± 0.09 (between mononuclear cell ratio and lymphocyte cell ratio) to 0.99 ± 0.01 (between white blood cell count and granulocyte cell count). Furthermore, low-to-moderate approximate genetic correlations between hematological parameters with one longevity, 4 fertility, and 5 health traits were observed. One hundred ninety-nine significant SNP located primarily on the Bos taurus autosomes (BTA) BTA4, BTA6, and BTA8 were associated with 16 hematological parameters. Based on the RNA-seq analyses, 6,687 genes were significantly downregulated and 4,119 genes were upregulated when comparing 2 groups of cows with high and low phenotypic values. By integrating genome-wide association studies (GWAS), RNA-seq, and previously published results, the main candidate genes associated with hematological parameters in Holstein cattle were ACRBP, ADAMTS3, CANT1, CCM2L, CNN3, CPLANE1, GPAT3, GRIP2, PLAGL2, RTL6, SOX4, WDFY3, and ZNF614. Hematological parameters are heritable and moderately to highly genetically correlated among themselves. The large number of candidate genes identified based on GWAS and RNA-seq indicate the polygenic nature and complex genetic determinism of hematological parameters in Holstein cattle.

Abstract Iodine deficiency-induced goiter continues to be a global public health concern, with varying manifestations based on geography, patient’s age, and sex. To gain insights into clinical occurrences, a retrospective study analyzed medical records from patients with iodine deficiency-induced goiter or thyroid cancer who underwent surgery at the Community Hospital in Riehen, Switzerland, between 1929 and 1989. Despite today’s adequate iodine supplementation, a significant risk for iodine-independent goiter remains in Switzerland, suggesting that genetic factors, among others, might be involved. Thus, a pilot study exploring the feasibility of genetic analysis of blood spots from these medical records was conducted to investigate and enhance the understanding of goiter development, potentially identify genetic variations, and explore the influence of dietary habits and other environmental stimuli on the disease. Blood prints from goiter patients’ enlarged organs were collected per decade from medical records. These prints had been made by pressing, drawing, or tracing (i.e., pressed and drawn) the removed organs onto paper sheets. DNA analysis revealed that its yields varied more between the prints than between years. A considerable proportion of the samples exhibited substantial DNA degradation unrelated to sample collection time and DNA mixtures of different contributors. Thus, each goiter imprint must be individually evaluated and cannot be used to predict the success rate of genetic analysis in general. Collecting a large sample or the entire blood ablation for genetic analysis is recommended to mitigate potential insufficient DNA quantities. Researchers should also consider degradation and external biological compounds’ impact on the genetic analysis of interest, with the dominant contributor anticipated to originate from the patient’s blood.

Summary Addition of molecular data to prognostic models has improved risk stratification of myelodysplastic neoplasms (MDS). However, the role of molecular lesions, particularly in the group of low‐risk disease (LR‐MDS), is uncertain. We evaluated a set of 227 patients with LR‐MDS. Overall survival (OS) and probability of leukaemic progression were the main endpoints. RUNX1 was associated with lower OS and SF3B1 with a reduced risk of death (HR: 1.7, 95% CI, 1.1–2.9; p = 0.05; and HR: 0.23, 95% CI 0.1–0.5; p < 0.001; respectively). TP53 and RUNX1 mutations were predictive covariates for the probability of leukaemic progression (p < 0.001). Blast percentage, neither analysed as categorical (<5% vs. 5%–9%; HR: 1.3, 95% CI, 0.7–2.9; p = 0.2) nor as a continuous variable (HR: 1.07, 95% CI, 0.9–1.1; p = 0.07), had impact on survival or probability of progression (sHR: 1.05, 95% CI, 0.9–1.1; p = 0.2). These results retained statistical significance when analysis was restricted to the definition of LR‐MDS according to the WHO 2022 and ICC classifications (<5% blasts). Thus, with the incorporation of molecular data, blast percentage happens to lose clinical significance both for survival and probability of progression in the group of patients with LR‐MDS. [ABSTRACT FROM AUTHOR]

Simple Summary: The aims of this study are to analyze prevalence rates, influence, and genetic parameters (heritability, genetic, and phenotypic correlations) of mastitis (MAS), endometritis (MET), and ketosis (KET) in Chinese Holstein Cattle. Data from 37,836 dairy cows in Central China were analyzed using the logistic regression method, a mixed linear model, and an animal model (BLUP). The prevalence rates of MAS, MET, and KET were 20.04%, 10.68%, and 7.33%, respectively. MAS and MET had a negative effect on production traits. High-milk yield cows had high KET prevalence rates. MAS, MET, and KET all had negative influences on reproduction traits. The heritabilities of predispositions to MAS, MET, and KET were 0.09, 0.01, and 0.02, respectively. Mastitis (MAS), endometritis (MET), and ketosis (KET) are prevalent diseases in dairy cows that result in substantial economic losses for the dairy farming industry. This study gathered 26,014 records of the health and sickness of dairy cows and 99,102 data of reproduction from 13 Holstein dairy farms in Central China; the milk protein and milk fat content from 56,640 milk samples, as well as the pedigree data of 37,836 dairy cows were obtained. The logistic regression method was used to analyze the variations in the prevalence rates of MAS, MET, and KET among various parities; the mixed linear model was used to examine the effects of the three diseases on milk production, milk quality, and reproductive traits. DMU software (version 5.2) utilized the DMUAI module in conjunction with the single-trait and two-trait animal model, as well as best linear unbiased prediction (BLUP), to estimate the genetic parameters for the three diseases, milk production, milk quality, and reproductive traits in dairy cows. The primary findings of the investigation comprised the following: (1) The prevalence rates of MAS, MET, and KET in dairy farms were 20.04%, 10.68%, and 7.33%, respectively. (2) MAS and MET had a substantial impact (p < 0.01) on milk production, resulting in significant decreases of 112 kg and 372 kg in 305-d Milk Yield (305-d MY), 4 kg and 12 kg in 305-d Protein Yield (305-d PY), and 6 kg and 16 kg in 305-d Fat Yield (305-d FY). As a result of their excessive 305-d MY, some cows were diagnosed with KET due to glucose metabolism disorder. The 305-d MY of cows with KET was significantly higher than that of healthy cows (205 kg, p < 0.01). (3) All three diseases resulted in an increase in the Interval from Calving to First Service (CTFS, 0.60–1.50 d), Interval from First Service to Conception (FSTC, 0.20–16.20 d), Calving Interval (CI, 4.00–7.00 d), and Number of Services (NUMS, 0.07–0.35). (4) The heritabilities of cows with MAS, MET, and KET were found to be low, with values of 0.09, 0.01, and 0.02, respectively. The genetic correlation between these traits ranged from 0.14 to 0.44. This study offers valuable insights on the prevention and control of the three diseases, as well as feeding management and genetic breeding. [ABSTRACT FROM AUTHOR]

Objective Methods Results Conclusion The objective is to develop a natural and stable anti‐oxidative stress and anti‐ageing ingredient. In this study, we evaluated the changes in white tea leaves fermented with Eurotium cristatum PLT‐PE and Saccharomyces boulardii PLT‐HZ and their efficacy against skin oxidative stress.We employed untargeted metabolomics technology to analyse the differential metabolites between tea extract (TE) and fermented tea extract (FTE). In vitro, using H2O2‐induced HaCaT cells, we evaluated cell vitality, ROS, and inflammatory factors (TNF‐α, IL‐1β, and IL‐6). Additionally, we verified the effects on the extracellular matrix and nuclear DNA using fibroblasts or reconstructed skin models. We measured skin hydration, elasticity, wrinkle area, wrinkle area ratio, erythema area, and erythema area ratio in volunteers after using an emulsion containing 3% FTE for 28 and 56 days.Targeted metabolomics analysis of white tea leaves yielded more than 20 differential metabolites with antioxidant and anti‐inflammatory activities, including amino acids, polypeptides, quercetin, and liquiritin post‐fermentation. FTE, compared to TE, can significantly reduce reactive oxygen species (ROS) and protect against oxidative stress‐induced skin damage in H2O2‐induced HaCaT cells. FTE can inhibit H2O2‐induced collagen degradation by suppressing the MAPK/c‐Jun signalling pathway and can also mitigate the reactive oxygen species damage to nuclear DNA. Clinical studies showed that the volunteers' stratum corneum water content, skin elasticity, wrinkle area, wrinkle area ratio, erythema area, and erythema area ratio significantly improved from the baseline after 28 and 56 days of FTE use.This study contributes to the growing body of literature supporting the protective effects against skin oxidative stress and ageing from fermented plant extracts. Moreover, our findings might inspire multidisciplinary efforts to investigate new fermentation techniques that could produce even more potent anti‐ageing solutions. [ABSTRACT FROM AUTHOR]

Background: Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1. Methods: We analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis. Results: The OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations. Conclusions: This study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies. [ABSTRACT FROM AUTHOR]

This study aims to investigate the causal relationship between primary Sjögren's syndrome (SS) and multiple sclerosis (MS) using a two-sample Mendelian randomization (MR) analysis to provide insights into their common mechanisms and implications for therapeutic strategies. We utilized data from Genome-Wide Association Studies (GWAS) for primary SS (1,290 cases and 213,145 controls) and MS (4,888 cases and 10,395 controls), restricted to European ancestry. Instrumental variables (IVs) were selected based on genetic variants associated with primary SS. The primary MR method was Inverse Variance Weighted (IVW), supplemented by MR Egger, Weighted Median, Simple Mode, and Weighted Mode algorithms to assess the bidirectional causal relationships between MS and primary SS. Sensitivity analyses, including MR-PRESSO and leave-one-out analysis, were conducted to ensure the robustness of our findings. After excluding SNPs with pleiotropic effects, 42 and 5 SNPs were identified as robust IVs for primary SS and MS, respectively. Our analysis revealed a significant protective effect of MS on primary SS, with IVW showing an OR of 0.896 (95% CI: 0.841–0.954, P = 0.001). No significant heterogeneity or horizontal pleiotropy was detected, supporting the reliability of the results. Our findings suggest a potential protective effect of MS against primary SS, indicating a negative causal association between these two autoimmune diseases. This adds valuable genetic evidence to the understanding of the complex interplay between primary SS and MS, offering new avenues for research and therapeutic interventions. [ABSTRACT FROM AUTHOR]

Strangles is a globally widespread, commonly diagnosed and important infectious disease of equids caused by Streptococcus equi subsp. equi. We performed whole genome sequencing of 19 S. equi isolates collected from imported horses at the Japanese border. Of these isolates, 15 isolates were obtained from clinical cases and 4 were from subclinical cases. The 19 isolates were grouped into 3 Bayesian analysis of population structure (BAPS) groups by the core genome single nucleotide polymorphism analysis corresponding to exporting country, SeM typing, or exporter of the horses. The 19 isolates possessed same pathogenic genes regardless of clinical status in imported horses and no antimicrobial resistance genes. The disease status of the horses may rather reflect the prior exposure of animals with sub-clinical infection to S. equi. [ABSTRACT FROM AUTHOR]

Background: Understanding the mechanism of male sterility is crucial for producing hybrid seeds and developing sterile germplasm resources. However, only a few cytoplasmic male sterility (CMS) lines of cotton have been produced due to several challenges, like inadequate variation of agronomic traits, incomplete sterility, weak resilience of restorer lines, and difficulty in combining strong dominance. Therefore, the morphological and cytological identification of CMS in cotton will facilitate hybrid breeding. Results: Two F2 segregating populations of cotton were constructed from cytoplasmic male sterile lines (HaA and 01A, maternal) and restorer lines (HaR and 26R, paternal). Genetic analysis of these populations revealed a segregation ratio of 3:1 for fertile to sterile plants. Phenotypic analysis indicated no significant differences in traits of flower bud development between sterile and fertile plants. However, sterile plants exhibited smaller floral organs, shortened filament lengths, and anther atrophy on the flowering day in comparison with the fertile plants. When performed scanning electron microscopy (SEM), the two F2 populations revealed morphological variations in the anther epidermis. Cellular analysis showed no significant differences in pollen development before pollen maturation. Interestingly, between the pollen maturation and flowering stages, the tapetum layer of sterile plants degenerated prematurely, resulting in abnormal pollen grains and gradual pollen degradation. Conclusion: The results of this study suggest that fertility-restoring genes are controlled by a single dominant gene. Sterile plants exhibit distinctive floral morphology, which is characterized by stamen atrophy and abnormal anthers. Pollen abortion occurs between pollen maturity and flowering, indicating that premature tapetum degradation may be the primary cause of pollen abortion. Overall, our study provides a theoretical basis for utilizing CMS in hybrid breeding and in-depth investigation of the dominant configuration of cotton hybrid combinations, mechanisms of sterility, and the role of sterile and restorer genes. [ABSTRACT FROM AUTHOR]

Crop inflorescences are directly related to yield. The wild tomato species Solanum pimpinellifolium displays rich genetic diversity. However, limited information is available regarding the inflorescence of this wild population. Here, 300 Solanum pimpinellifolium accessions were investigated to uncover the genetics of inflorescence length (IFL) over two seasons. The results revealed significant genetic variation in IFL among S. pimpinellifolium accessions, with a continuous distribution ranging from 3.68 to 38.13 cm. Few accessions exhibited long inflorescences. The IFL was greatly influenced by environmental factors and the 3rd, 4th and 5th IFL performed relatively stable. The broad-sense heritability ranged from 53.40 to 80.51%. One accession LA1256 showed the longest IFL and most stable across two seasons. Six-generation populations were constructed by crossing LA1256 with the cultivar Moneymaker, possessing very short IFL to understand the genetic mechanism. F1 progeny clearly indicated that long inflorescence was a recessive trait. The further genetic analysis indicated that IFL fitted the E-0 genetic model and the heritability estimates ranged from 50.40 to 65.38% in B1, B2 and F2 populations. The IFL was mainly controlled by major genes and modified by the polygene. These findings obtained in this study would pave the way for a detailed understanding of the inflorescence of wild species S. pimpinellifolium and provide the strategy for the manipulation of tomato improvement. [ABSTRACT FROM AUTHOR]